Canonical Allele Identifier: CA839320

Gene: CYP4A11

Linked Data

• dbSNP Id: rs550368607
• ExAC: 1:47398674 T / G
• gnomAD v2: 1-47398674-T-G
• gnomAD v3: 1-46933002-T-G
• gnomAD v4: 1-46933002-T-G
• MyVariant Identifiers: chr1:g.47398674T>G (hg19) ; chr1:g.46933002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933002T>G , CM000663.2:g.46933002T>G	GRCh38
NC_000001.10:g.47398674T>G , CM000663.1:g.47398674T>G	GRCh37
NC_000001.9:g.47171261T>G	NCBI36
NG_007932.1:g.13483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1268A>C MANE Select	ENSP00000311095.4:p.Lys423Thr
ENST00000310638.8:c.1268A>C	ENSP00000311095.4:p.Lys423Thr
ENST00000371904.8:c.1271A>C	ENSP00000360971.4:p.Lys424Thr
ENST00000371905.1:c.1268A>C	ENSP00000360972.1:p.Lys423Thr
ENST00000462347.5:c.974A>C	ENSP00000477495.1:p.Lys325Thr
ENST00000465874.5:c.*66A>C	ENSP00000476368.1:n.*66A>C
ENST00000468629.5:c.1127-165A>C	ENSP00000476619.1:n.1127-165A>C
ENST00000474458.5:c.743-165A>C	ENSP00000476988.1:n.743-165A>C
ENST00000475477.5:c.*82-165A>C	ENSP00000476854.1:n.*82-165A>C
NM_000778.3:c.1268A>C	NP_000769.2:p.Lys423Thr
XM_005270539.1:c.974A>C	XP_005270596.1:p.Lys325Thr
XM_011540826.1:c.1286A>C	XP_011539128.1:p.Lys429Thr
XM_011540827.1:c.992A>C	XP_011539129.1:p.Lys331Thr
XM_011540828.1:c.974A>C	XP_011539130.1:p.Lys325Thr
XR_246241.1:n.1172A>C
XR_246242.1:n.1156A>C
NM_001319155.1:c.1172A>C	NP_001306084.1:p.Lys391Thr
NM_001363587.1:c.974A>C	NP_001350516.1:p.Lys325Thr
NR_134988.1:n.973A>C
NR_134989.1:n.1164A>C
NR_134990.1:n.1178-165A>C
NR_134991.1:n.1145A>C
NR_134992.1:n.794-165A>C
NR_134993.1:n.928-165A>C
NR_134994.1:n.1180A>C
XM_017000465.1:c.956A>C	XP_016855954.1:p.Lys319Thr
XR_001737005.1:n.1266-165A>C
NM_000778.4:c.1268A>C MANE Select	NP_000769.2:p.Lys423Thr
NM_001319155.2:c.1172A>C	NP_001306084.1:p.Lys391Thr
NM_001363587.2:c.974A>C	NP_001350516.1:p.Lys325Thr
NR_134988.2:n.965A>C
NR_134989.2:n.1156A>C
NR_134990.2:n.1170-165A>C
NR_134991.2:n.1137A>C
NR_134992.2:n.786-165A>C
NR_134993.2:n.920-165A>C
NR_134994.2:n.1172A>C